Cargando…
Defining the Sequence Elements and Candidate Genes for the Coloboma Mutation
The chicken coloboma mutation exhibits features similar to human congenital developmental malformations such as ocular coloboma, cleft-palate, dwarfism, and polydactyly. The coloboma-associated region and encoded genes were investigated using advanced genomic, genetic, and gene expression technologi...
Autores principales: | Robb, Elizabeth A., Antin, Parker B., Delany, Mary E. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2013
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3621764/ http://dx.doi.org/10.1371/journal.pone.0060267 |
Ejemplares similares
-
Two Proximally Close Priority Candidate Genes for diplopodia-1, an Autosomal Inherited Craniofacial-Limb Syndrome in the Chicken: MRE11 and GPR83
por: O’Hare, Elizabeth A, et al.
Publicado: (2019) -
Macular coloboma
por: Varghese, Mary, et al.
Publicado: (2016) -
Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma
por: Zhang, Xiaohui, et al.
Publicado: (2009) -
High‐throughput custom capture sequencing identifies novel mutations in coloboma‐associated genes: Mutation in DNA‐binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma
por: Kalaskar, Vijay K., et al.
Publicado: (2019) -
Coloboma of the Iris
por: Satterlee, Richard H.
Publicado: (1896)